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  2. Anophthalmia or microphthalmia
  3. SOX2
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Anophthalmia or microphthalmia

Gene: SOX2

Green List (high evidence)
SOX2 (SRY-box 2)
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 18 panels

2 reviews

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert review
Created: 10 May 2016, 11:36 a.m.
Created: 10 May 2016, 11:36 a.m.

Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microphthalmia, syndromic 3, 206900Optic nerve hypoplasia and abnormalities of the central nervous system, 206900
  • severe, bilateral cases
OMIM
184429
Clinvar variants
Variants in SOX2
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 3

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for SOX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX2 was added to Anophthalmia/microphthalmiapanel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

SOX2 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SOX2 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SOX2 was added to Anophthalmia/microphthalmiapanel. Sources: Eligibility Statements for GeL

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SOX2 was added to Anophthalmia/microphthalmiapanel. Sources: UKGTN